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- Multi-Omics for Health and Disease (Multi-Omics)1
- Ethical, Legal and Social Implications (ELSI) Research Program2
- Genomics-Enabled Learning Health Systems (gLHS)2
- Genome Technology Program1
- Impact of Genomic Variation on Function (IGVF) Consortium1
- Clinical Genome (ClinGen) Resource1
- Polygenic RIsk MEthods in Diverse populations (PRIMED) Consortium1
- Genomics Research to Elucidate the Genetics of Rare Diseases (GREGOR) Consortium2
News Release
A new phase of the IGNITE Network will conduct clinical trials of genomic medicine interventions.
… of high blood pressure, hypertension and chronic kidney disease. Both hypertension and high blood pressure exacerbate … APOL1 ) gene that increase susceptibility to severe kidney disease by a factor of 10. Researchers will compare whether … of high blood pressure and improved prevention of kidney disease caused by high blood pressure. Treatment of …
News Release
The U.S. National Institutes of Health (NIH) has long invested in basic genetics and genomics research, clinical trials, as well as translational medicine and social science studies, to advance our understanding of this widespread illness to help develop effective therapies.
… two gene therapies for the treatment of sickle cell disease in patients 12 years and older. About 100,000 … and millions of people around the world have sickle cell disease , a hereditary disease common among those whose ancestors come from …
Event
NHGRI workshop seeking scientific perspectives for relating genomic variation to human phenotype.
… a.m. NHGRI's Current Approach to "Variant to Function to Disease" NHGRI Staff 11:25 - 12:10 p.m. Current State of the … if any, is needed to study Mendelian and common disease, and what should NHGRI do in this area? Why? … of Variation Associated with Human Health and Disease Panel: Barbara Stranger Anshul Kundaje David Valle …
Profile
Dr. Hanchard talks about his journey into genetics research, his collaborations with international researchers, and the importance of determination in science.
… Health Research and head of the Childhood Complex Disease Genomics Section within the Intramural Research … such as malnutrition, hypertension and sickle cell disease in diverse populations. He also works with a highly … transfusion treatments seen in patients with sickle cell disease. Many of the conditions that Dr. Hanchard studies are …
Media Availability
Researchers have used a new combination of microfluidics and genomics to fish out a specific gut bacterium from the sea of microbes in the human microbiome.
… orhard-to-grow microorganisms implicated in health and disease, according to a study published online the week of … Content … New approach may improve study of hard-to-grow, disease-related microorganisms … Researchers have used a new …
Event
The 2018 meeting focused on KOMP's collaborations with various human disease gene discovery programs.
… on KOMP's collaborations with various human disease gene discovery programs. The day featured talks and … Research Program (Kids First) and the Undiagnosed Disease Network (UDN). … Rockville Hilton Hotel … MD … 1750 … focused on KOMP's collaborations with various human disease gene discovery programs. … The 2018 meeting focused …
The Genomics Landscape
In the April 2021 issue of the Genomics Landscape, NHGRI Director, Eric Green, M.D., Ph.D. talks about the NIH UNITE program's goal to end structural racism in biomedical research.
… of both genomic and non-genomic contributors to health and disease — routinely considering the importance of social and … genomic conditions can provide insights into more complex disease processes, where the causes are often a truly … a 22-item framework that identifies the minimal polygenic risk score-related information researchers should include in …
News Release
Genomicists and clinicians are beginning to offer patients genetic testing for a list of treatable diseases apart from the one that brought them into the clinic.
… Bryant had a variant in the RET gene, which increased his risk of having a condition called multiple endocrine … surgery to remove his thyroid. At his early stage of the disease, the removal of the thyroid is usually curative … relying on individual and collective genomic data to make assessments about a person’s health risks. Clinicians can …
News Release
Receiving a cancer diagnosis can feel like losing control of everything.
… in breast cancers, CIMP is associated with a lower risk of malignant tumors and a higher chance of survival. But … gain a more detailed picture of the specific tumor and disease progression. To better group tumors, doctors need a … out: What the epigenetic code can tell doctors about disease … ​Receiving a cancer diagnosis can feel like losing …
News Release
The zebrafish is a powerhouse tool that helps researchers better understand the genes that are implicated in disease.
… better understand the genes that are implicated in disease. And, here at the National Human Genome Research … from human patient samples that have a particular genetic disease. These findings can be specific mutations that cause … is: Does the same gene when knocked out in fish mimic the disease in humans? By approaching the study of genetic …